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Dmdmdx
Spontaneous Allele Detail
Summary
Symbol: Dmdmdx
Name: dystrophin, muscular dystrophy; X linked muscular dystrophy
MGI ID: MGI:1856328
Synonyms: mdx, pke, pyruvate kinase expression
Gene: Dmd  Location: ChrX:81992476-84249747 bp, + strand  Genetic Position: ChrX, 38.38 cM, cytoband C
Alliance: Dmdmdx page
Dmdmdx/? Myod1tm1Jae/Myod1tm1Jae mice develop cardiomyopathy

Show the 4 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/10ScSn
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis mutation arose in 1981 in a C57BL/10ScSn colony at University of Leicester. A C-to-T substitution in the CAA codon in exon 23 (ENSMUST00000114000 chrX:g.83803333C>T; c.2983C>T; p.Q995*) results in a termination codon (TAA) in place of a glutamine codon. This allele is predicted to produce a truncated protein. (J:9866, J:40541, J:102707)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 96 assay results
28 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 15 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Dmdmdx
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 30 strains available      Cell Lines: 0 lines available
Carrying any Dmd Mutation:  153 strains or lines available
References
Original:  J:28684 Moore K, et al., Research News (Dmd). Mouse News Lett. 1981;64:61
All:  1280 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory